List of variants in gene LOXHD1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00069
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	rs886044666	0.00003
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)	rs1555683951
NM_001384474.1(LOXHD1):c.1971-2A>G

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